Genetic Epilepsy
Gene: OTUD6B

OTUD6B (OTU domain containing 6B)
EnsemblGeneIds (GRCh38): ENSG00000155100
EnsemblGeneIds (GRCh37): ENSG00000155100
OMIM: 612021, Gene2Phenotype
OTUD6B is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

IDDFSDA is a severe multisystem disorder characterized by global developmental delay, microcephaly, absent speech, hypotonia, growth retardation with prenatal onset, feeding difficulties, structural brain abnormalities, congenital malformations including congenital heart disease, and musculoskeletal features. In 2017, 12 patients from 6 unrelated families with IDDFSDA identified with 4 homozygous mutations in the OTUD6B gene (WES and Sanger, and segregated with the disorder in the families). Other cases reported since.
Created: 20 Jan 2022, 7:56 a.m. | Last Modified: 20 Jan 2022, 7:56 a.m.

Panel Version: 0.10680

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, OMIM #617452

Publications

Created: 20 Jan 2022, 7:56 a.m.
Last Modified: 20 Jan 2022, 7:56 a.m.
Panel version: Imported from Mendeliome panel version 0.10680

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Epilepsy Flagship
Victorian Clinical Genetics Services

Phenotypes

Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, OMIM #617452

OMIM

612021

Clinvar variants

Variants in OTUD6B

Penetrance

None

Publications

Panels with this gene